A Chorionic Gonadotropin-Sensitive Mutation in the Follicle-Stimulating Hormone Receptor as a Cause of Familial Gestational Spontaneous Ovarian Hyperstimulation Syndrome

doi:10.1056/NEJMoa030065

Volume 349:753-759		August 21, 2003		Number 8

A Chorionic Gonadotropin–Sensitive Mutation in the Follicle-Stimulating Hormone Receptor as a Cause of Familial Gestational Spontaneous Ovarian Hyperstimulation Syndrome

Claudine Vasseur, M.D., Patrice Rodien, M.D., Ph.D., Isabelle Beau, Ph.D., Agnès Desroches, A.E., Capucine Gérard, M.D., Loïc de Poncheville, M.D., Stéphanie Chaplot, M.D., Frédérique Savagner, Pharm.D., Ph.D., Anne Croué, M.D., Elisabeth Mathieu, Pharm.D., Najiba Lahlou, M.D., Philippe Descamps, M.D., and Micheline Misrahi, M.D., Ph.D.

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by Kaiser, U. B.

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PubMed Citation

Spontaneous ovarian hyperstimulation syndrome is a rare event,in contrast to iatrogenic ovarian hyperstimulation syndrome,which is induced with the use of gonadotropins in assisted reproductivemedicine. The pathological features of the syndrome, whetherspontaneous or iatrogenic, include the presence of multipleserous and hemorrhagic follicular cysts lined by luteinizedcells, a condition called hyperreactio luteinalis.¹ The pathogenesisof the syndrome and its systemic manifestations are poorly understood.²^,³^,⁴^,⁵^,⁶We describe a familial case of recurrent spontaneous ovarianhyperstimulation syndrome. The affected women were heterozygousfor a mutation in the transmembrane domain of the gene encodingthe follicle-stimulating hormone receptor. In . . . [Full Text of this Article]

Case Report

Family History

Methods

Hormone Assays

DNA Sequencing

Construction of an Expression Vector Encoding the Mutated Follicle-Stimulating Hormone Receptor

Functional Studies of the Mutated Receptor

Results

Identification of the Mutation

Functional Studies of the Mutant Receptor

Discussion

Source Information

From the Service de Gynécologie Obstétrique (C.V., C.G., L.P., S.C., P.D.), INSERM EMI Unité 0018 (P.R., F.S.), Service d'Endocrinologie (P.R.), Laboratoire de Biochimie (F.S.), Laboratoire d'Anatomopathologie (A.C.), and Laboratoire d'Hormonologie (E.M.), Centre Hospitalier Universitaire d'Angers, Angers; INSERM EMI Unité 120, Hôpital Bicêtre, Le Kremlin Bicêtre (I.B., A.D., M.M.); and Laboratoire d'Hormonologie, Hôpital St. Vincent de Paul, Paris (N.L.) — all in France.

Address reprint requests to Dr. Rodien at the Service d'Endocrinologie, Centre Hospitalier Universitaire d'Angers, 4, rue Larrey, 49033 Angers CEDEX 01, France, or at parodien@chu-angers.fr.